OBJECTIVETo use a hospital-based case-control study design to investigate the relationship between hepatocellular carcinoma (HCC) and the interaction of polymorphisms in the human mismatch repair gene,hMSH2,with environmental factors.

METHODSCases of new-onset,histopathology-diagnosed,and untreated (no chemotherapy or radiation therapy) HCC were enrolled between September 2009 and September 2012.A non-HCC healthy control group was also enrolled and was composed of individuals living in the same region as the cases for more than 10 years and age-/sex-matched with similar socioeconomic characteristics.All enrollees underwent hMSH2 genotyping by real-time PCR.T-test,chi-square test and unconditional logistic regression analysis was used to analyze the difference in allele frequencies among the case and control groups and the relationship between hMSH2 polymorphisms and environmental factors.

RESULTSFrequencies of hMSH2 rs2303428 CC,CT and TT genotypes in the HCC group were significantly different than in the control group (14.13% vs.8.21%,47.02% vs.49.47%,and 38.85% vs.42.32%;x 2=8.289,P =0.016).Individuals carrying the hMSH2 rs2303428 T allelic gene had a significantly increased risk compared to those with the hMSH2 rs2303428 C allelic gene (adjusted OR=1.228).Interactions were found between the hMSH2 genotype and hepatitis B surface antigen (HBsAg)-positive hepatitis infection (adjusted OR=1.865) and history of cancer (adjusted OR=5.634).There was no relation between hMSH2 gene rs4952887 and rs2059520 and liver cancer development or interaction with environmental factors.

CONCLUSIONThe hMSH2 rs2303428 genotype is positively related to risk of HCC in Chinese,with HBsAg-positive hepatitis infection starus and history of cancer increasing the risk.

Alleles ; Carcinoma, Hepatocellular ; genetics ; Case-Control Studies ; Female ; Gene Frequency ; Genotype ; Humans ; Liver Neoplasms ; genetics ; Male ; MutS Homolog 2 Protein ; genetics ; Polymorphism, Genetic ; Real-Time Polymerase Chain Reaction

Objective:To explore the value of high-resolution CT (HRCT) visual scores and quantitative analysis in assessing pulmonary Langerhans cell histiocytosis (PLCH) in adults.Methods:In total 51 adult patients with PLCH confirmed by pathology in Peking Union Medical College Hospital from August 2014 to December 2021 were retrospectively analyzed. All patients underwent HRCT and pulmonary function tests (PFT). The involvement of the nodular and cystic lesions were evaluated by two experienced radiologists using CT visual scores. The cases were divided into three groups based on the nodular scores, and into four groups based on the cystic scores, respectively. Ratio of low attenuation areas (LAA%) was measured by an automatic post-processing software. Pulmonary function indices including forced expiratory volume in the first second (FEV 1), forced vital capacity (FVC), FEV 1/FVC, diffusion capacity for carbon monoxide of lung (D LCO), alveolar ventilation (V A), D LCO/V A, D LCO corrected for hemoglobin (D LCOc), D LCOc/V A were collected. FEV 1/FVC was expressed as measured values and other indices were expressed as percent predicted (%pred). Spearman correlation analysis was used to evaluate the correlation between HRCT visual scores, LAA% and PFT. The lung function indices among different nodular groups as well as among different cystic groups were compared using the Kruskal‐Wallis test. Results:Both nodular and cystic lesions were found on HRCT images of all 51 patients. There were no correlation between the visual scores of nodular lesions and lung function indices (all P>0.05). There were no significant differences in lung function indices among different nodular groups (all P>0.05). The visual scores of cystic lesions were negatively correlated with FEV 1/FVC, D LCO%pred, D LCO/V A%pred, D LCOc%pred, D LCOc/V A%pred ( r=-0.491, -0.347, -0.330, -0.373, -0.346, respectively, all P<0.05); the pulmonary function indices among different cystic groups had significant difference (all P<0.05). LAA% were negatively correlated with FEV 1/FVC, D LCO%pred, D LCO/V A%pred, D LCOc%pred, D LCOc/V A%pred ( r=-0.278, -0.378, -0.418, -0.395, -0.451, respectively, all P<0.05). Conclusion:HRCT visual scores of nodular lesions do not correlate with lung function in patients with PLCH. Visual scores and quantitative analysis of the cystic lesions can reflect the impairment degree of pulmonary ventilation and diffusion function to a certain extent, and may be used in assessment of patients with PLCH.

AIM: To observe the clinical and multimodal imaging features of retinopathy associated with novel coronavirus disease 2019(COVID-19)infection, investigate the related risk factors, and analyze the treatment and prognosis.METHODS: A total of 7 patients(7 eyes)with clinically confirmed COVID-19-associated retinopathy in Tianjin Medical University General Hospital from December 13, 2022 to January 13, 2023 were included in the study. All patients underwent color fundus photography, IR, spectral-domain optical coherence tomography(SD-OCT), fundus autofluorescein(FAF)and other ophthalmic examination and serological examination.RESULTS: Among the included patients, 2 cases(2 eyes)of central retinal vein occlusion(CRVO)appeared differently from previous CRVO. The hemorrhagic features of CRVO were round or fusiform shape hemorrhagic spots with white centers. One of them, the von Willebrand factor antigen(vWF: Ag)level was increased to 161.8%. The other case was positive in serologic test for lupus anticoagulant. In 2 cases(2 eyes)of multiple evanescent white dot syndrome(MEWDS), FAF showed that dots of high spontaneous fluorescence were scattered in the posterior pole. The prognosis of 2 MEWDS were good after the treatment of glucocorticoids. The 3 cases(3 eyes)of acute macular neuroretinopathy(AMN)showed reddened brown lesions in the macular area, hyporeflective lesions with clear boundaries on IR, and high signal intensity in the ONL and ELM, EZ/IZ signal fracture on SD-OCT.CONCLUSION: COVID-19 may cause inflammatory storm, involving all layers of retinal tissues and blood vessels, leading to the occurrence of various retinal lesions. Hormone therapy may be effective and the prognosis is good in most cases. Roth spot can be seen in fundus hemorrhage of CRVO, lupus anticoagulant and increased vWF: Ag may be risk factors for CRVO after COVID-19.